Eponymous Syndromes Flashcards
Fanconi anaemia
Autosomal recessive condition
Aplastic anaemia
AML
Breast cancer
Learning disabilities, short stature (short and retarded, susceptibility to aplastic anaemia, aml and breast cancer), cryptorchidism, small thumb, squint
Heerfordt’s syndrome
Acute sarcoid
Transient bilateral CN VII lesion, a/w fever, uveitis and parotitis
Fanconi syndrome
Generalised defect in proximal tubule absorption of things
Associated with renal tubular acidosis type 2, which is due to reduced HCO3 reabsorption at proximal tubule.
Treatment: load with bicarbonate
Causes of erythema nodosum
Bacterial infections: post-strep, TB Sarcoid IBD (especially UC) Drugs: sulphonamides, OCP, sulphonylureas idiopathic Pregnancy Hodgkins disease Inflammatory conditions: - BEHCETS DISEASE; IBD
Others: chlamydiae, strep, leprosy
Kearn-Sayres syndrome signs and symptoms
Bilateral ptosis
Opthalmoplegia (eyes tend to be affected first due to high concentrations of mitochondria here)
Retinitis PIGMENTOSA
Ataxia
Complete heart block
Cardiomyopathy
Lactic acidosis (too much anaerobic metabolism?)
Wegener’s Granulomatosis
- Nasal problems?
- pulmonary problems?
- renal problems?
- other problems?
Management
Nasal: starts with rhinorrhoea, sinusitis, “saddle-shaped nose” (as nasal mucosa erodes away)
Pulmonary: haemorrhage, cavitating lesions.
CXR shows MIGRATORY PATTERN, where solitary large lesions clear and move somewhere else.
Renal: crescentric glomerulonephritis
Others:
- skin = purpura and petechiae rashes
- CNS = peripheral neuropathy; mononeuritis multiplex.
- Arthritis
Management:
- steroids + cyclophosphamide
- (Aza and MTX as maintenance therapies)
- co-trimoxazole (proph. against PCP and staph.)
- plasmapheresis for severe renal problems
Churg-Strauss syndrome
- Triad
- Other common organs involved
- Management
- Late-onset asthma, eosinophilia, granulomatous small vessel vasculitis
- Nerves
Skin - tender subcutaneous nodules - Steroids, IFN-alpha
Korsakoff syndrome triad
Anterograde amnesia
Retrograde amnesia
Confabulation
(Basically, irreversible thiamine deficiency leads to patient who forgets many things, and cannot lay down new memory. Pretty awful)
Cheyne-stokes respiration
- Description
- Causes
- Hyperpnoea and apnoea (irregular breathing)
- In primary neurological pathology, suggests bilateral cortical disease
Also part of CUSHING REFLEX before coning
Still’s disease
- Clinical features and differentials
- Investigation results
- Management
1. High swinging fever (early evening) Maculopapular rash Arthritis (Hepatosplenomegaly; pericarditis) DDx: malignancy: leukaemia & neuroblastoma
- High ESR/CRP, neutrophilia, thrombocytosis.
No autoAbs - Non-weight bearing exercise
Aspirin and other NSAIDs
Steroids
MTX
Dermatomyositis - 6 features + Extramuscular features
4x skin signs: (HiGGS)
- Heliotrope rash
- Gottran’s papules
- “Shawl sign”
- Subcutaneous calcifications
Extramuscular:
Pulmonary fibrosis
MALIGNANCIES
Raynauds, fever, myalgia.
2x Hand signs:
- Mechanics hands
- Dilated capillary loops (nailfold erythema)
DERMATOMYOSITIS
Investigation results
Raised muscle enzymes
EMG: fibrillation
Muscle biopsy (?)
Anti-Jo
Management of Dermatomyositis
Screen for malignancies
Prednisolone
Immunosuppressives (usual stuff, MTX)
Hydroxychloroquin and other stuff used for skin
Causes of immediate postnatal jaundice (ie. <24hrs)
Physiological G6DP Deficiency Pyruvate Kinase deficiency Spherocytosis Congenital infections
Neonatal jaundice <2 weeks old
Physiological Breast milk Infection (UTI) Hemolysis Polycythaemia (crigler-najjar syndrome) Biliary atresia
